Wen Bai-Ping, Fan Mao, Dai Hong-Jian, Zhuang Yu, Liu Hong-Ling, Yang Jun-Yi, Yang Xiao-Hong, Deng Wen-Guo
Department of Clinical Laboratory, Kunming Children's Hospital, Kunming 650034, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2011 Feb;13(2):104-6.
To investigate the types and frequency of gene mutations in children with thalassemia in Kunming, Yunan Province.
A biochemical screening for thalassemia was performed by testing RBC fragility, MCV and hemoglobin electrophoresis on 1338 children from Kunming, Yunnan Province. Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB.
The positive rate of the biochemical screening for thalassemia was 11.36% (152 cases). The positive rate of genetic diagnosis was 8.59% (115 cases). Of the 115 cases, α-thalassemia was found in 43 cases, β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases.--SEA/αα accounted for 47%, -α4.2/αα accounted for 21%, and HbH disease accounted for 14%. Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest (32%), followed by CD41-42 (24%), CD17 (23%), IVS-II654 (10%), CD71-72 (10%), and -28 (1%).
The frequency of gene mutations for thalassemia is high in children from Kunming, Yunnan Province. Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.
调查云南省昆明市地中海贫血患儿的基因突变类型及频率。
对云南省昆明市1338名儿童进行红细胞脆性、平均红细胞体积（MCV）及血红蛋白电泳检测，进行地中海贫血生化筛查。对α地中海贫血患儿采用缺口聚合酶链反应（gap-PCR）进行基因诊断，对β地中海贫血患儿采用聚合酶链反应-反向点杂交（PCR-RDB）进行基因诊断。
地中海贫血生化筛查阳性率为11.36%（152例）。基因诊断阳性率为8.59%（115例）。115例中，α地中海贫血43例，β地中海贫血68例，α合并β地中海贫血4例。--SEA/αα占47%，-α4.2/αα占21%，血红蛋白H病占14%。68例β地中海贫血患儿检出6种基因型，βE突变频率最高（32%），其次为CD41-42（24%）、CD17（23%）、IVS-II654（10%）、CD71-72（10%）、-28（1%）。
云南省昆明市儿童地中海贫血基因突变频率较高。该地区应开展地中海贫血婚前及产前筛查和基因诊断。
